The present invention provides novel mutations identified in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that can be used for a more accurate diagnosis of cystic fibrosis (CF) and CF related disorders. Methods for testing a sample obtained from a subject to determine the presence of one or more mutations in the CFTR gene are provided wherein the presence of one or more mutations indicates that the subject has CF or a CF related disorder, or is a carrier of a CFTR mutation.
申请公布号
EP2550370(B1)
申请公布日期
2015.12.30
申请号
EP20110760022
申请日期
2011.03.22
申请人
ESOTERIX GENETIC LABORATORIES, LLC
发明人
NAGAN, NARASIMHAN;ROHLFS, ELIZABETH M.;SIRKO-OSADSA, DEBORAH ALEXA;ROSENBLUM, LYNNE SARAH;ZHOU, ZHAOQING;HEIM, RUTH A.